Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02748:Mthfd1l'

306158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mthfd1l

Ensembl Gene

ENSMUSG00000040675

Gene Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like

Synonyms

2410004L15Rik, Fthfsdc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02748

Quality Score

Status

Chromosome

Chromosomal Location

3923118-4117081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3968587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 414 (V414A)

Ref Sequence

ENSEMBL: ENSMUSP00000112897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043735] [ENSMUST00000117291] [ENSMUST00000120585]

AlphaFold

Q3V3R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043735
AA Change: V414A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036178
Gene: ENSMUSG00000040675
AA Change: V414A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	71	179	2.9e-15	PFAM
Pfam:THF_DHG_CYH_C	182	337	1.1e-27	PFAM
Pfam:FTHFS	358	977	1.2e-260	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117291
AA Change: V414A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112870
Gene: ENSMUSG00000040675
AA Change: V414A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	71	179	2.9e-15	PFAM
Pfam:THF_DHG_CYH_C	182	337	1.1e-27	PFAM
Pfam:FTHFS	358	977	1.2e-260	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120585
AA Change: V414A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112897
Gene: ENSMUSG00000040675
AA Change: V414A

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	30	41	N/A	INTRINSIC
Pfam:THF_DHG_CYH	70	179	8e-17	PFAM
Pfam:THF_DHG_CYH_C	182	337	5.4e-28	PFAM
Pfam:FTHFS	359	977	7.2e-260	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality, delayed embryonic growth, craniofacial anomalies, and neural tube defects including craniorachischisis, exencephaly and/or a wavy neural tube. Maternal formate supplementation reduces the incidence of NTDs and improves embryonic growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	T	A	5: 144,203,415 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Crlf3	A	G	11: 79,950,145 (GRCm39)	S162P	probably damaging	Het
Dctn2	C	T	10: 127,113,142 (GRCm39)	R231C	probably damaging	Het
Dhcr24	T	C	4: 106,421,589 (GRCm39)		probably benign	Het
Efcab12	T	A	6: 115,797,063 (GRCm39)	T364S	probably damaging	Het
Eps8l3	A	G	3: 107,786,684 (GRCm39)		probably benign	Het
Ezh2	A	G	6: 47,535,173 (GRCm39)	L92P	probably damaging	Het
Fbxw15	A	G	9: 109,387,278 (GRCm39)	I239T	possibly damaging	Het
Fndc4	T	C	5: 31,452,130 (GRCm39)	T96A	possibly damaging	Het
Gcn1	G	A	5: 115,748,859 (GRCm39)		probably null	Het
Ifna13	A	G	4: 88,562,097 (GRCm39)	S176P	probably damaging	Het
Kcnh1	A	G	1: 191,903,728 (GRCm39)	H56R	probably damaging	Het
Lrp1b	T	C	2: 40,592,761 (GRCm39)	D3786G	probably damaging	Het
Mcm3ap	T	A	10: 76,337,082 (GRCm39)	V1339E	probably damaging	Het
Or10ag56	T	A	2: 87,140,009 (GRCm39)	L312Q	probably damaging	Het
Or5an1c	A	G	19: 12,218,204 (GRCm39)	F274L	probably benign	Het
Or6b3	A	G	1: 92,439,189 (GRCm39)	L187P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,273 (GRCm39)	S502P	probably damaging	Het
Pde5a	T	A	3: 122,554,541 (GRCm39)	N242K	probably damaging	Het
Pik3cb	A	T	9: 98,945,021 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,865,198 (GRCm39)	M729V	probably damaging	Het
Rai14	A	G	15: 10,589,421 (GRCm39)	V259A	probably benign	Het
Rassf4	T	C	6: 116,616,418 (GRCm39)	I298V	possibly damaging	Het
Senp7	C	T	16: 56,006,457 (GRCm39)	T927M	probably damaging	Het
Snx27	A	T	3: 94,410,872 (GRCm39)	I426N	probably benign	Het
Syce1l	A	T	8: 114,382,097 (GRCm39)		probably benign	Het
Tmem18	T	C	12: 30,638,744 (GRCm39)	*141Q	probably null	Het
Tnrc6c	T	C	11: 117,622,996 (GRCm39)	S1006P	probably benign	Het
Utp20	T	C	10: 88,653,157 (GRCm39)	T308A	probably benign	Het
Vmn2r24	T	A	6: 123,793,057 (GRCm39)	C795S	possibly damaging	Het
Zdhhc20	A	G	14: 58,096,010 (GRCm39)	S143P	probably benign	Het

Other mutations in Mthfd1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Mthfd1l	APN	10	3,989,971 (GRCm38)	synonymous	probably benign
IGL01013:Mthfd1l	APN	10	3,980,716 (GRCm39)	missense	probably damaging	1.00
IGL01018:Mthfd1l	APN	10	3,982,345 (GRCm39)	splice site	probably benign
IGL01018:Mthfd1l	APN	10	3,928,708 (GRCm39)	missense	probably benign
IGL01018:Mthfd1l	APN	10	3,957,800 (GRCm39)	missense	probably benign
IGL01068:Mthfd1l	APN	10	3,978,428 (GRCm39)	missense	probably damaging	1.00
IGL01584:Mthfd1l	APN	10	3,966,738 (GRCm39)	missense	probably damaging	0.97
IGL01609:Mthfd1l	APN	10	3,968,567 (GRCm39)	missense	probably benign	0.00
IGL02272:Mthfd1l	APN	10	3,991,812 (GRCm39)	missense	probably damaging	0.99
IGL02344:Mthfd1l	APN	10	3,998,272 (GRCm39)	splice site	probably null
IGL02429:Mthfd1l	APN	10	4,039,334 (GRCm39)	missense	probably damaging	1.00
IGL02503:Mthfd1l	APN	10	4,033,824 (GRCm39)	missense	probably damaging	1.00
IGL02748:Mthfd1l	APN	10	3,930,268 (GRCm39)	critical splice donor site	probably null
IGL03031:Mthfd1l	APN	10	3,968,601 (GRCm39)	critical splice donor site	probably null
IGL03047:Mthfd1l	APN	10	3,930,409 (GRCm39)	splice site	probably benign
IGL03215:Mthfd1l	APN	10	3,991,826 (GRCm39)	missense	probably benign	0.14
IGL03367:Mthfd1l	APN	10	4,056,536 (GRCm39)	splice site	probably benign
R0047:Mthfd1l	UTSW	10	3,928,727 (GRCm39)	splice site	probably benign
R0047:Mthfd1l	UTSW	10	3,928,727 (GRCm39)	splice site	probably benign
R0107:Mthfd1l	UTSW	10	3,991,838 (GRCm39)	missense	probably benign
R0348:Mthfd1l	UTSW	10	4,006,766 (GRCm39)	missense	probably damaging	1.00
R0496:Mthfd1l	UTSW	10	4,040,006 (GRCm39)	missense	probably benign
R0658:Mthfd1l	UTSW	10	3,997,976 (GRCm39)	splice site	probably null
R1177:Mthfd1l	UTSW	10	3,935,661 (GRCm39)	missense	possibly damaging	0.82
R1676:Mthfd1l	UTSW	10	4,033,877 (GRCm39)	critical splice donor site	probably null
R1703:Mthfd1l	UTSW	10	4,098,093 (GRCm39)	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4,056,528 (GRCm39)	missense	probably damaging	1.00
R1888:Mthfd1l	UTSW	10	4,056,528 (GRCm39)	missense	probably damaging	1.00
R1891:Mthfd1l	UTSW	10	3,982,284 (GRCm39)	nonsense	probably null
R2014:Mthfd1l	UTSW	10	3,997,894 (GRCm39)	missense	probably benign
R2061:Mthfd1l	UTSW	10	4,053,288 (GRCm39)	missense	probably benign	0.00
R2197:Mthfd1l	UTSW	10	3,978,399 (GRCm39)	missense	probably damaging	1.00
R2360:Mthfd1l	UTSW	10	4,006,771 (GRCm39)	missense	probably damaging	1.00
R3085:Mthfd1l	UTSW	10	4,040,007 (GRCm39)	missense	probably benign	0.00
R3176:Mthfd1l	UTSW	10	4,098,025 (GRCm39)	missense	probably damaging	1.00
R3276:Mthfd1l	UTSW	10	4,098,025 (GRCm39)	missense	probably damaging	1.00
R4065:Mthfd1l	UTSW	10	3,982,242 (GRCm39)	missense	probably damaging	1.00
R4612:Mthfd1l	UTSW	10	3,980,717 (GRCm39)	missense	probably damaging	1.00
R4803:Mthfd1l	UTSW	10	3,957,840 (GRCm39)	missense	possibly damaging	0.52
R4883:Mthfd1l	UTSW	10	3,957,775 (GRCm39)	missense	probably benign	0.11
R4932:Mthfd1l	UTSW	10	3,930,241 (GRCm39)	missense	probably benign	0.00
R5507:Mthfd1l	UTSW	10	4,056,432 (GRCm39)	missense	probably benign	0.20
R5687:Mthfd1l	UTSW	10	3,940,002 (GRCm39)	splice site	probably null
R5694:Mthfd1l	UTSW	10	3,985,239 (GRCm39)	missense	possibly damaging	0.90
R5727:Mthfd1l	UTSW	10	4,053,302 (GRCm39)	missense	possibly damaging	0.86
R5908:Mthfd1l	UTSW	10	4,039,392 (GRCm39)	missense	probably damaging	1.00
R5951:Mthfd1l	UTSW	10	3,998,222 (GRCm39)	missense	probably damaging	1.00
R6330:Mthfd1l	UTSW	10	3,930,234 (GRCm39)	missense	probably benign
R6583:Mthfd1l	UTSW	10	3,997,937 (GRCm39)	missense	probably damaging	0.96
R6846:Mthfd1l	UTSW	10	3,997,898 (GRCm39)	missense	probably damaging	1.00
R7105:Mthfd1l	UTSW	10	4,053,261 (GRCm39)	missense	probably benign
R7456:Mthfd1l	UTSW	10	4,039,998 (GRCm39)	missense	probably damaging	1.00
R7848:Mthfd1l	UTSW	10	4,033,739 (GRCm39)	missense	possibly damaging	0.81
R8003:Mthfd1l	UTSW	10	3,934,147 (GRCm39)	missense	probably benign	0.00
R8073:Mthfd1l	UTSW	10	3,923,417 (GRCm39)	missense	probably benign	0.28
R8140:Mthfd1l	UTSW	10	3,957,745 (GRCm39)	nonsense	probably null
R8478:Mthfd1l	UTSW	10	4,098,064 (GRCm39)	missense	probably damaging	1.00
R8677:Mthfd1l	UTSW	10	3,998,250 (GRCm39)	missense	possibly damaging	0.58
R8943:Mthfd1l	UTSW	10	3,978,466 (GRCm39)	missense	probably damaging	1.00
R9086:Mthfd1l	UTSW	10	3,923,412 (GRCm39)	missense	probably benign	0.22
R9267:Mthfd1l	UTSW	10	3,934,154 (GRCm39)	missense	probably benign
R9371:Mthfd1l	UTSW	10	4,053,335 (GRCm39)	missense	possibly damaging	0.49
X0003:Mthfd1l	UTSW	10	4,039,303 (GRCm39)	missense	probably damaging	0.99
Z1088:Mthfd1l	UTSW	10	3,957,844 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16